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Update exomiser-cli application.properties to use 2402 data and add i…
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…n default clinvar data options.
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julesjacobsen committed Feb 13, 2024
1 parent 014e00f commit 5cc5797
Showing 1 changed file with 7 additions and 3 deletions.
10 changes: 7 additions & 3 deletions exomiser-cli/src/main/resources/application.properties
Original file line number Diff line number Diff line change
Expand Up @@ -35,7 +35,7 @@ remm.version=0.3.1.post1
cadd.version=1.4

### hg19 assembly ###
exomiser.hg19.data-version=2109
exomiser.hg19.data-version=2402
# transcript source will default to ensembl. Can define as ucsc/ensembl/refseq
#exomiser.hg19.transcript-source=ensembl
# location of CADD/REMM Tabix files - you will need these for analysis of non-coding variants.
Expand All @@ -46,16 +46,20 @@ exomiser.hg19.data-version=2109
#exomiser.hg19.remm-path=${exomiser.data-directory}/remm/ReMM.v${remm.version}.hg19.tsv.gz
# local frequencies are required to be normalised in the same manner as the input VCF and frequency values must be percentages.
#exomiser.hg19.local-frequency-path=${exomiser.data-directory}/local/local_frequency_test_hg19.tsv.gz
exomiser.hg19.variant-white-list-path=${exomiser.hg19.data-version}_hg19_clinvar_whitelist.tsv.gz
#exomiser.hg19.variant-white-list-path=${exomiser.hg19.data-version}_hg19_clinvar_whitelist.tsv.gz
#exomiser.hg19.clin-var-data-version=2402
#exomiser.hg19.use-clinvar-white-list=true

### hg38 assembly ###
# To enable analysis of samples called against the hg38 assembly copy the hg19 above and just replace the hg19 with hg38
#exomiser.hg38.data-version=2109
#exomiser.hg38.data-version=2402
#exomiser.hg38.cadd-snv-path=${exomiser.data-directory}/cadd/${cadd.version}/whole_genome_SNVs.tsv.gz
#exomiser.hg38.cadd-in-del-path=${exomiser.data-directory}/cadd/${cadd.version}/InDels.tsv.gz
#exomiser.hg38.remm-path=${exomiser.data-directory}/remm/ReMM.v${remm.version}.hg38.tsv.gz
#exomiser.hg38.local-frequency-path=${exomiser.data-directory}/local/local_frequency_test_hg38.tsv.gz
#exomiser.hg38.variant-white-list-path=${exomiser.hg38.data-version}_hg38_clinvar_whitelist.tsv.gz
#exomiser.hg38.clin-var-data-version=2402
#exomiser.hg38.use-clinvar-white-list=true

### phenotypes ###
exomiser.phenotype.data-version=2109
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